NA01225
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities DGAP dbGaP |
Alternate IDs |
GM17022 [TRANSLOCATED CHROMOSOME] |
Quantity |
0.050mg |
Quantitation Method |
Please see our FAQ |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Asiatic Indian
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,t(2;20)(p21;p13).arr Xq11.1q12(61865213-67040497)x2 hmz,Xq13.1q25(70313556-123199221)x2 hmz,2q24.2q24.3(162705510-168222414)x2 hmz,3q22.3q28(138718816-191702659)x2 hmz,5q35.1q35.3(169154846-180420866)x2 hmz,7p21.1p15.1(17511517-29911394)x2 hmz,10q22.3q23.31(80173558-92431009)x2 hmz,12p13.1q15(12833150-69574905)x2 hmz,12q22q24.22(92595142-116638283)x2 hmz,15q23q25.3(68155593-84802737)x2 hmz,16p13.3(26670-5546417)x2 hmz, 16p12.1p11.2(22747493-31380104)x2 hmz,16q11.2q13(45092477-56182731)x2 hmz,19p13.2q13.33(9667978-54493318)x2 hmz
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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Passage Frozen |
10 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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Cytogenetics |
Chromosome 2: TRANSLOCATION Breakpoint 2p21 t(2;20)2p21 |
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Chromosome 20: TRANSLOCATION Breakpoint 20p13 t(2;20)20p13 |
Remarks |
Asiatic Indian; de novo; has multiple congenital anomalies |
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
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